Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000179.3

p.S5C

c.13A>T

Surrounding Variants

1 paper

NM_000179.3

p.S5R

c.13A>C

1 paper

NM_000179.3

p.S5G

c.13A>G

1 paper

NM_000179.3

p.S5delins

c.13_14delinsTT

10 papers

NM_000179.3

p.Q4Q

c.12G>A

3 papers

NM_000179.3

p.S5N

c.14G>A

20 papers

NM_000179.3

p.Q4H

c.12G>C

1 paper

NM_000179.3

p.Q4_S5insFs

c.12_13insAA

4 papers

NM_000179.3

p.S5insFs

c.15dupC

1 paper

NM_000179.3

p.Q4_S5insFs

c.12_13insT

1 paper

NM_000179.3

p.Q4H

c.12G>T

1 paper

NM_000179.3

p.S5Fs

c.14delinsTTFs

1 paper

NM_000179.3

p.Q4R

c.11A>G